Moodley M, Moosa A
Department of Paediatrics and Child Health, Faculty of Medicine, University of Natal, Congella, Republic of South Africa.
Neuropediatrics. 1990 Nov;21(4):206-10. doi: 10.1055/s-2008-1071497.
Three children with the clinical features of the Schwartz-Jampel syndrome are presented, two with classical features and the third with physical and radiological features resembling those found in the Schwartz-Jampel syndrome but myotonia could not be elicited either clinically or electrophysiologically. Various arguments are put forward for the absence of myotonic phenomena in the latter child.